Mutagenetix > Incidental Mutation

Incidental Mutation 'R7897:Abcb11'

609732

Institutional Source

Beutler Lab

Gene Symbol

Abcb11

Ensembl Gene

ENSMUSG00000027048

Gene Name

ATP-binding cassette, sub-family B member 11

Synonyms

sister of P-glycoprotein, ABC16, PFIC2, Bsep, PGY4, Lith1

MMRRC Submission

045949-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.741) question?

Stock #

R7897 (G1)

Quality Score

150.467

Status

Not validated

Chromosome

Chromosomal Location

69068626-69172960 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGTTGATCCATA to T at 69154216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102709] [ENSMUST00000102710] [ENSMUST00000180142]

AlphaFold

Q9QY30

Predicted Effect

probably null
Transcript: ENSMUST00000102709

SMART Domains

Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	62	373	1.3e-65	PFAM
AAA	447	639	1.65e-17	SMART
Pfam:ABC_membrane	755	1031	2.7e-55	PFAM
AAA	1105	1299	1.9e-17	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102710

SMART Domains

Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	62	371	1.7e-72	PFAM
AAA	447	639	1.65e-17	SMART
Pfam:ABC_membrane	755	1029	3.2e-59	PFAM
AAA	1105	1299	1.9e-17	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000180142

SMART Domains

Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	62	371	1.4e-72	PFAM
AAA	447	639	1.65e-17	SMART
Pfam:ABC_membrane	755	1029	2.5e-59	PFAM
AAA	1105	1299	1.9e-17	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt transporter in humans and mice. Mutations in the human gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display intrahepatic cholestasis. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,634,999 (GRCm39)	T335A	probably benign	Het
Actr3b	T	C	5: 26,036,657 (GRCm39)	Y245H	probably benign	Het
Afm	G	A	5: 90,695,727 (GRCm39)	M411I	probably benign	Het
Ahr	T	C	12: 35,554,169 (GRCm39)	N650S	possibly damaging	Het
Ap5m1	A	G	14: 49,311,232 (GRCm39)	R101G	probably benign	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 134,646,453 (GRCm39)		probably benign	Het
Atp13a4	T	C	16: 29,215,284 (GRCm39)	Q1151R		Het
Bcl9	A	G	3: 97,112,567 (GRCm39)	V1296A	possibly damaging	Het
Bsn	A	C	9: 107,989,065 (GRCm39)	M2229R	probably damaging	Het
Cfap74	T	C	4: 155,514,351 (GRCm39)	V529A		Het
Clip1	C	T	5: 123,760,861 (GRCm39)	V767M	probably benign	Het
Col6a5	A	G	9: 105,766,382 (GRCm39)	I1846T	possibly damaging	Het
Crisp1	A	T	17: 40,618,656 (GRCm39)	D68E	probably benign	Het
Csmd1	A	T	8: 17,584,935 (GRCm39)	L19Q	possibly damaging	Het
Cul7	T	C	17: 46,968,931 (GRCm39)	I892T	probably benign	Het
Efcab3	A	T	11: 104,889,061 (GRCm39)	Y4159F	probably benign	Het
Elavl3	G	A	9: 21,929,846 (GRCm39)	R353C	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fbxo3	A	G	2: 103,883,757 (GRCm39)	D327G	possibly damaging	Het
Galr1	T	C	18: 82,424,256 (GRCm39)	N7S	probably benign	Het
Glyatl3	T	C	17: 41,215,802 (GRCm39)	T235A	probably damaging	Het
Gm5145	A	C	17: 20,790,967 (GRCm39)	Q115P	probably benign	Het
Grm5	T	C	7: 87,780,069 (GRCm39)	S1202P	probably benign	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Jmjd1c	A	G	10: 67,075,644 (GRCm39)	N1837S	probably damaging	Het
Jph3	A	T	8: 122,516,136 (GRCm39)		probably null	Het
Kcna6	A	G	6: 126,715,761 (GRCm39)	L376P	probably damaging	Het
Kcne3	C	G	7: 99,833,520 (GRCm39)	R46G	probably benign	Het
Kcnq2	T	C	2: 180,722,934 (GRCm39)	D842G	probably damaging	Het
Klhl12	A	T	1: 134,386,219 (GRCm39)	I4F	probably benign	Het
Kpna1	T	A	16: 35,854,235 (GRCm39)	I525N	probably benign	Het
Krtap31-1	T	C	11: 99,798,949 (GRCm39)	C51R	possibly damaging	Het
Ms4a12	C	T	19: 11,207,723 (GRCm39)	G61D	possibly damaging	Het
Nol4	T	C	18: 22,956,400 (GRCm39)	N115D		Het
Nudt16l2	A	C	9: 105,021,709 (GRCm39)	Y112*	probably null	Het
Pcdh15	A	G	10: 74,289,827 (GRCm39)	Y882C	probably damaging	Het
Pde8b	T	A	13: 95,244,202 (GRCm39)	H79L	probably benign	Het
Pdia2	T	C	17: 26,417,207 (GRCm39)	E79G	probably benign	Het
Pgap1	A	T	1: 54,590,167 (GRCm39)	F90L	probably damaging	Het
Pik3cd	T	A	4: 149,741,726 (GRCm39)	T407S	probably benign	Het
Pkd1l2	G	T	8: 117,724,827 (GRCm39)	F2361L	possibly damaging	Het
Pla2g12b	A	T	10: 59,246,816 (GRCm39)	R77*	probably null	Het
Ppfia2	A	G	10: 106,655,399 (GRCm39)	Y322C	probably damaging	Het
Psg23	T	C	7: 18,341,108 (GRCm39)	Q382R	possibly damaging	Het
Ptprq	A	G	10: 107,546,484 (GRCm39)	V270A	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Robo2	T	C	16: 73,695,838 (GRCm39)	E1431G	probably benign	Het
Sdk2	A	G	11: 113,764,027 (GRCm39)	I253T	possibly damaging	Het
Sox9	A	C	11: 112,675,635 (GRCm39)	I275L	probably benign	Het
Tlr4	A	G	4: 66,758,058 (GRCm39)	I284V	probably benign	Het
Unc13b	A	G	4: 43,171,860 (GRCm39)	D896G	unknown	Het
Usp48	A	T	4: 137,371,739 (GRCm39)	H955L	probably damaging	Het
Vps54	T	C	11: 21,213,307 (GRCm39)	I30T	probably benign	Het
Zfp106	G	A	2: 120,366,096 (GRCm39)	R59*	probably null	Het
Zmym4	A	T	4: 126,783,332 (GRCm39)	D1169E	possibly damaging	Het
Zscan2	T	A	7: 80,525,448 (GRCm39)	Y390N	probably damaging	Het

Other mutations in Abcb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Abcb11	APN	2	69,115,025 (GRCm39)	missense	possibly damaging	0.90
IGL01407:Abcb11	APN	2	69,076,288 (GRCm39)	missense	probably damaging	1.00
IGL01583:Abcb11	APN	2	69,126,753 (GRCm39)	missense	possibly damaging	0.81
IGL01813:Abcb11	APN	2	69,117,936 (GRCm39)	splice site	probably benign
IGL01885:Abcb11	APN	2	69,117,971 (GRCm39)	missense	probably damaging	1.00
IGL01937:Abcb11	APN	2	69,117,956 (GRCm39)	missense	probably damaging	1.00
IGL02058:Abcb11	APN	2	69,073,842 (GRCm39)	missense	probably damaging	0.98
IGL02117:Abcb11	APN	2	69,154,169 (GRCm39)	splice site	probably benign
IGL02119:Abcb11	APN	2	69,158,344 (GRCm39)	critical splice acceptor site	probably null
IGL02120:Abcb11	APN	2	69,087,654 (GRCm39)	missense	probably damaging	1.00
IGL02158:Abcb11	APN	2	69,130,269 (GRCm39)	missense	probably damaging	0.96
IGL02212:Abcb11	APN	2	69,079,233 (GRCm39)	missense	probably damaging	0.97
IGL02306:Abcb11	APN	2	69,095,801 (GRCm39)	nonsense	probably null
IGL02505:Abcb11	APN	2	69,076,105 (GRCm39)	missense	probably damaging	1.00
IGL02538:Abcb11	APN	2	69,136,949 (GRCm39)	missense	possibly damaging	0.67
IGL02793:Abcb11	APN	2	69,122,293 (GRCm39)	missense	possibly damaging	0.90
IGL02863:Abcb11	APN	2	69,115,026 (GRCm39)	missense	probably damaging	0.99
IGL02875:Abcb11	APN	2	69,122,293 (GRCm39)	missense	possibly damaging	0.90
IGL03164:Abcb11	APN	2	69,122,343 (GRCm39)	nonsense	probably null
IGL03181:Abcb11	APN	2	69,158,352 (GRCm39)	intron	probably benign
3-1:Abcb11	UTSW	2	69,158,337 (GRCm39)	missense	probably benign	0.00
FR4737:Abcb11	UTSW	2	69,073,862 (GRCm39)	missense	probably damaging	0.97
R0031:Abcb11	UTSW	2	69,115,652 (GRCm39)	missense	probably damaging	1.00
R0398:Abcb11	UTSW	2	69,117,010 (GRCm39)	missense	probably null	0.82
R0413:Abcb11	UTSW	2	69,158,355 (GRCm39)	intron	probably benign
R0437:Abcb11	UTSW	2	69,087,639 (GRCm39)	missense	probably damaging	1.00
R0496:Abcb11	UTSW	2	69,108,228 (GRCm39)	splice site	probably benign
R0646:Abcb11	UTSW	2	69,115,627 (GRCm39)	missense	probably damaging	1.00
R0669:Abcb11	UTSW	2	69,159,662 (GRCm39)	missense	probably benign	0.15
R0856:Abcb11	UTSW	2	69,154,262 (GRCm39)	missense	probably benign
R1061:Abcb11	UTSW	2	69,108,153 (GRCm39)	missense	probably benign	0.00
R1460:Abcb11	UTSW	2	69,087,718 (GRCm39)	splice site	probably benign
R1714:Abcb11	UTSW	2	69,136,925 (GRCm39)	missense	probably damaging	0.99
R1739:Abcb11	UTSW	2	69,091,910 (GRCm39)	missense	probably damaging	1.00
R1856:Abcb11	UTSW	2	69,076,267 (GRCm39)	missense	probably damaging	1.00
R1994:Abcb11	UTSW	2	69,113,014 (GRCm39)	splice site	probably null
R2086:Abcb11	UTSW	2	69,089,820 (GRCm39)	splice site	probably benign
R2133:Abcb11	UTSW	2	69,154,227 (GRCm39)	missense	possibly damaging	0.65
R2516:Abcb11	UTSW	2	69,159,673 (GRCm39)	missense	possibly damaging	0.88
R2930:Abcb11	UTSW	2	69,087,702 (GRCm39)	missense	probably damaging	0.96
R3771:Abcb11	UTSW	2	69,159,720 (GRCm39)	splice site	probably benign
R3772:Abcb11	UTSW	2	69,159,720 (GRCm39)	splice site	probably benign
R3979:Abcb11	UTSW	2	69,154,320 (GRCm39)	missense	probably benign	0.11
R4227:Abcb11	UTSW	2	69,115,120 (GRCm39)	missense	probably damaging	1.00
R4255:Abcb11	UTSW	2	69,136,949 (GRCm39)	missense	probably benign	0.03
R4614:Abcb11	UTSW	2	69,115,025 (GRCm39)	missense	possibly damaging	0.90
R4647:Abcb11	UTSW	2	69,115,615 (GRCm39)	missense	probably damaging	1.00
R4719:Abcb11	UTSW	2	69,089,971 (GRCm39)	missense	probably damaging	1.00
R4734:Abcb11	UTSW	2	69,154,306 (GRCm39)	missense	possibly damaging	0.73
R4765:Abcb11	UTSW	2	69,076,211 (GRCm39)	missense	probably damaging	1.00
R4861:Abcb11	UTSW	2	69,076,249 (GRCm39)	missense	probably damaging	1.00
R4861:Abcb11	UTSW	2	69,076,249 (GRCm39)	missense	probably damaging	1.00
R4870:Abcb11	UTSW	2	69,069,540 (GRCm39)	missense	probably damaging	0.99
R4988:Abcb11	UTSW	2	69,154,236 (GRCm39)	missense	probably benign	0.12
R5028:Abcb11	UTSW	2	69,104,356 (GRCm39)	missense	probably damaging	1.00
R5048:Abcb11	UTSW	2	69,138,850 (GRCm39)	missense	probably benign	0.06
R5177:Abcb11	UTSW	2	69,115,639 (GRCm39)	missense	probably damaging	1.00
R5301:Abcb11	UTSW	2	69,117,191 (GRCm39)	missense	probably damaging	0.98
R5789:Abcb11	UTSW	2	69,076,108 (GRCm39)	missense	probably damaging	1.00
R5892:Abcb11	UTSW	2	69,091,844 (GRCm39)	missense	probably damaging	0.99
R6003:Abcb11	UTSW	2	69,073,811 (GRCm39)	missense	probably benign	0.43
R6252:Abcb11	UTSW	2	69,122,305 (GRCm39)	missense	probably benign	0.10
R6389:Abcb11	UTSW	2	69,154,238 (GRCm39)	missense	probably damaging	1.00
R6512:Abcb11	UTSW	2	69,112,996 (GRCm39)	missense	probably benign
R6590:Abcb11	UTSW	2	69,115,062 (GRCm39)	missense	probably damaging	1.00
R6690:Abcb11	UTSW	2	69,115,062 (GRCm39)	missense	probably damaging	1.00
R6732:Abcb11	UTSW	2	69,117,190 (GRCm39)	missense	probably damaging	1.00
R6870:Abcb11	UTSW	2	69,115,642 (GRCm39)	missense	possibly damaging	0.91
R7028:Abcb11	UTSW	2	69,096,019 (GRCm39)	missense	probably benign
R7223:Abcb11	UTSW	2	69,104,487 (GRCm39)	missense	probably benign
R7323:Abcb11	UTSW	2	69,117,979 (GRCm39)	missense	probably damaging	1.00
R7337:Abcb11	UTSW	2	69,076,113 (GRCm39)	missense	probably damaging	1.00
R7339:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7340:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7341:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7343:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7366:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7393:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7394:Abcb11	UTSW	2	69,130,211 (GRCm39)	missense	probably damaging	0.99
R7405:Abcb11	UTSW	2	69,117,963 (GRCm39)	missense	probably damaging	1.00
R7411:Abcb11	UTSW	2	69,134,280 (GRCm39)	critical splice donor site	probably null
R7488:Abcb11	UTSW	2	69,108,146 (GRCm39)	missense	probably benign
R7544:Abcb11	UTSW	2	69,095,830 (GRCm39)	missense	probably benign	0.05
R7660:Abcb11	UTSW	2	69,117,938 (GRCm39)	splice site	probably null
R7754:Abcb11	UTSW	2	69,117,162 (GRCm39)	missense	probably damaging	1.00
R7771:Abcb11	UTSW	2	69,069,535 (GRCm39)	missense	probably damaging	0.99
R7794:Abcb11	UTSW	2	69,117,022 (GRCm39)	missense	possibly damaging	0.62
R7834:Abcb11	UTSW	2	69,115,068 (GRCm39)	missense	probably damaging	1.00
R7897:Abcb11	UTSW	2	69,154,217 (GRCm39)	small deletion	probably benign
R7937:Abcb11	UTSW	2	69,154,217 (GRCm39)	small deletion	probably benign
R8004:Abcb11	UTSW	2	69,087,554 (GRCm39)	missense	possibly damaging	0.68
R8089:Abcb11	UTSW	2	69,104,383 (GRCm39)	missense	probably benign	0.09
R8279:Abcb11	UTSW	2	69,069,549 (GRCm39)	missense	probably benign	0.05
R8426:Abcb11	UTSW	2	69,155,606 (GRCm39)	missense	probably benign
R8441:Abcb11	UTSW	2	69,087,574 (GRCm39)	missense	possibly damaging	0.93
R8460:Abcb11	UTSW	2	69,154,381 (GRCm39)	missense	possibly damaging	0.70
R8462:Abcb11	UTSW	2	69,104,499 (GRCm39)	missense	probably benign
R8532:Abcb11	UTSW	2	69,090,035 (GRCm39)	missense	possibly damaging	0.69
R8534:Abcb11	UTSW	2	69,154,190 (GRCm39)	missense	possibly damaging	0.89
R8711:Abcb11	UTSW	2	69,095,856 (GRCm39)	missense	probably damaging	1.00
R8746:Abcb11	UTSW	2	69,087,754 (GRCm39)	intron	probably benign
R8964:Abcb11	UTSW	2	69,117,061 (GRCm39)	missense	possibly damaging	0.52
R8990:Abcb11	UTSW	2	69,104,494 (GRCm39)	missense
R9081:Abcb11	UTSW	2	69,122,388 (GRCm39)	missense	possibly damaging	0.59
R9093:Abcb11	UTSW	2	69,069,513 (GRCm39)	missense	probably damaging	0.97
R9228:Abcb11	UTSW	2	69,138,809 (GRCm39)	nonsense	probably null
R9294:Abcb11	UTSW	2	69,095,840 (GRCm39)	missense	possibly damaging	0.89
X0058:Abcb11	UTSW	2	69,119,787 (GRCm39)	missense	probably benign	0.12
X0062:Abcb11	UTSW	2	69,076,250 (GRCm39)	missense	probably damaging	1.00
X0065:Abcb11	UTSW	2	69,130,210 (GRCm39)	missense	probably damaging	0.99
Z1176:Abcb11	UTSW	2	69,122,325 (GRCm39)	missense	probably damaging	1.00
Z1177:Abcb11	UTSW	2	69,159,613 (GRCm39)	critical splice donor site	probably null
Z1177:Abcb11	UTSW	2	69,136,873 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTTGATGCTTTGAAACCTG -3'
(R):5'- AGACAACTGGCTGATGTTTATGG -3'

Sequencing Primer
(F):5'- TGCTTTGAAACCTGGAAGGATG -3'
(R):5'- CAACTGGCTGATGTTTATGGGAAGTG -3'

Posted On

2019-12-20